%0 Journal Article
%A Wang, Anthony C
%A Jones, David
%A Abecassis, Isaac Joshua
%A Cole, Bonnie L
%A Leary, Sarah E S
%A Lockwood, Christina M
%A Chavez, Lukas
%A Capper, David
%A Korshunov, Andrey
%A Fallah, Aria
%A Wang, Shelly
%A Ene, Chibawanye
%A Olson, James M
%A Geyer, J Russell
%A Holland, Eric C
%A Lee, Amy
%A Ellenbogen, Richard G
%A Ojemann, Jeffrey G
%T Desmoplastic Infantile Ganglioglioma/Astrocytoma (DIG/DIA) Are Distinct Entities with Frequent BRAFV600 Mutations.
%J Molecular cancer research
%V 16
%N 10
%@ 1541-7786
%C Philadelphia, Pa.
%I AACR
%M DKFZ-2018-01675
%P 1491 - 1498
%D 2018
%X Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are extremely rare tumors that typically arise in infancy; however, these entities have not been well characterized in terms of genetic alterations or clinical outcomes. Here, through a multi-institutional collaboration, the largest cohort of DIG/DIA to date is examined using advanced laboratory and data processing techniques. Targeted DNA exome sequencing and DNA methylation profiling were performed on tumor specimens obtained from different patients (n = 8) diagnosed histologically as DIG/DIGA. Two of these cases clustered with other tumor entities, and were excluded from analysis. The remaining 16 cases were confirmed to be DIG/DIA by histology and by DNA methylation profiling. Somatic BRAF gene mutations were discovered in 7 instances (43.8
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:30006355
%R 10.1158/1541-7786.MCR-17-0507
%U https://inrepo02.dkfz.de/record/141144